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Summary Literature (0)
DOID:0111778 - 46,XY sex reversal 1

Disease Ontology Definition:A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2.

Synonyms: 46,XY gonadal dysgenesis, complete, SRY-related, 46,XY sex reversal, SRY-related, SRXY1

Xenbase Genes :


MIM:
MIM:400044 - 46,XY SEX REVERSAL 1; SRXY1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): 46,XY sex reversal (is_a), Y-linked monogenic disease (is_a)